I73N (p.Ile73Asn) variant of PMP22 (Peripheral myelin protein 22)
I73N (p.Ile73Asn) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
I73N (p.Ile73Asn) variant details
- p.Ile73Asn
- rs1049906036
- ClinGen CA288098387
- ClinVar RCV001752664
- TOPMed rs1049906036
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.61
- CADD 27.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available